Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
1 records shown · first 60A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.
PMID 40263602 | PMCID PMC13285979 | DOI 10.1038/s41435-025-00325-7 · Genes and immunity · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs231780 | “We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10-6) and B3GNT2 (rs10176009; p = 5.1 × 10-6)-pleiotropic-IMD-genes known previously to function in anti-microbial-/-tumoral-immunity but not in the development of FEIs-and confirmed associations with CTLA4 (rs231780; p = 2.2 × 10-5).” | 0.90 | hgvs_regex_v1 |
| gene | F8 | “Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene (F8)-mutations and deficiencies in plasma-FVIII-activity that prevent intrinsic-pathway mediated coagulation-amplification.” | 0.98 | hgnc_dict_v1 |
| gene | B3GNT2 | “We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10-6) and B3GNT2 (rs10176009; p = 5.1 × 10-6)-pleiotropic-IMD-genes known previously to function in anti-microbial-/-tumoral-immunity but not in the development of FEIs-and confirmed associations with CTLA4 (rs231780; p = 2.2 × 10-5).” | 0.98 | hgnc_dict_v1 |
| gene | CTLA4 | “We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10-6) and B3GNT2 (rs10176009; p = 5.1 × 10-6)-pleiotropic-IMD-genes known previously to function in anti-microbial-/-tumoral-immunity but not in the development of FEIs-and confirmed associations with CTLA4 (rs231780; p = 2.2 × 10-5).” | 0.98 | hgnc_dict_v1 |